Incidental Mutation 'R4300:Or5h24'
ID |
322394 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or5h24
|
Ensembl Gene |
ENSMUSG00000059041 |
Gene Name |
olfactory receptor family 5 subfamily H member 24, pseudogene 1 |
Synonyms |
Olfr192, MOR183-11_p, GA_x54KRFPKG5P-55327126-55326203 |
MMRRC Submission |
041657-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
R4300 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
58918429-58922216 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58918641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 238
(Y238C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080251]
[ENSMUST00000205727]
[ENSMUST00000206214]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000080251
AA Change: Y238C
|
Predicted Effect |
unknown
Transcript: ENSMUST00000205727
AA Change: Y238C
|
Predicted Effect |
unknown
Transcript: ENSMUST00000206214
AA Change: Y238C
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503B20Rik |
T |
A |
3: 146,356,675 (GRCm39) |
R78* |
probably null |
Het |
A2m |
G |
A |
6: 121,650,434 (GRCm39) |
V1181I |
probably benign |
Het |
Cacna1b |
T |
C |
2: 24,525,251 (GRCm39) |
S1639G |
probably damaging |
Het |
Ccs |
T |
C |
19: 4,884,285 (GRCm39) |
T56A |
probably benign |
Het |
Cd177 |
T |
C |
7: 24,449,845 (GRCm39) |
I547V |
possibly damaging |
Het |
Ckmt2 |
C |
A |
13: 92,011,457 (GRCm39) |
|
probably null |
Het |
Cyth1 |
A |
G |
11: 118,074,720 (GRCm39) |
F180L |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,660,747 (GRCm39) |
I840M |
probably damaging |
Het |
Gm37150 |
G |
A |
9: 72,292,758 (GRCm39) |
|
noncoding transcript |
Het |
Herc1 |
A |
G |
9: 66,396,688 (GRCm39) |
D4255G |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnn4 |
G |
T |
7: 24,077,029 (GRCm39) |
V193L |
probably benign |
Het |
Lrrc8d |
G |
A |
5: 105,961,606 (GRCm39) |
R672Q |
probably damaging |
Het |
Mboat2 |
A |
G |
12: 25,009,082 (GRCm39) |
N463D |
probably benign |
Het |
Mtfr1 |
T |
A |
3: 19,269,621 (GRCm39) |
|
probably null |
Het |
Or10g6 |
A |
C |
9: 39,934,435 (GRCm39) |
I249L |
probably benign |
Het |
Pcnt |
G |
C |
10: 76,203,225 (GRCm39) |
R2626G |
probably benign |
Het |
Pik3cg |
A |
G |
12: 32,226,671 (GRCm39) |
I1072T |
probably damaging |
Het |
Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
Psph |
G |
T |
5: 129,864,529 (GRCm39) |
|
probably null |
Het |
Rfx4 |
T |
C |
10: 84,740,966 (GRCm39) |
Y601H |
probably damaging |
Het |
Rmc1 |
A |
G |
18: 12,321,919 (GRCm39) |
N513D |
probably benign |
Het |
Setd5 |
T |
G |
6: 113,127,123 (GRCm39) |
V1249G |
probably damaging |
Het |
Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Spata31 |
A |
T |
13: 65,067,575 (GRCm39) |
H79L |
probably benign |
Het |
Srbd1 |
C |
A |
17: 86,292,632 (GRCm39) |
R979L |
probably damaging |
Het |
Stox2 |
A |
T |
8: 47,647,027 (GRCm39) |
Y208* |
probably null |
Het |
Sun1 |
A |
T |
5: 139,213,349 (GRCm39) |
|
probably benign |
Het |
Tfap4 |
T |
C |
16: 4,369,224 (GRCm39) |
D132G |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Tubgcp3 |
G |
T |
8: 12,707,600 (GRCm39) |
P130T |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,703,673 (GRCm39) |
E277G |
probably damaging |
Het |
|
Other mutations in Or5h24 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R3807:Or5h24
|
UTSW |
16 |
58,919,206 (GRCm39) |
makesense |
probably null |
|
R3872:Or5h24
|
UTSW |
16 |
58,919,124 (GRCm39) |
missense |
unknown |
|
R4008:Or5h24
|
UTSW |
16 |
58,919,124 (GRCm39) |
missense |
unknown |
|
R4009:Or5h24
|
UTSW |
16 |
58,919,124 (GRCm39) |
missense |
unknown |
|
R4011:Or5h24
|
UTSW |
16 |
58,919,124 (GRCm39) |
missense |
unknown |
|
R4043:Or5h24
|
UTSW |
16 |
58,919,124 (GRCm39) |
missense |
unknown |
|
R4044:Or5h24
|
UTSW |
16 |
58,919,124 (GRCm39) |
missense |
unknown |
|
R4296:Or5h24
|
UTSW |
16 |
58,919,124 (GRCm39) |
missense |
unknown |
|
R4948:Or5h24
|
UTSW |
16 |
58,919,340 (GRCm39) |
missense |
probably damaging |
0.99 |
R5411:Or5h24
|
UTSW |
16 |
58,919,067 (GRCm39) |
missense |
unknown |
|
R5426:Or5h24
|
UTSW |
16 |
58,918,665 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5436:Or5h24
|
UTSW |
16 |
58,919,182 (GRCm39) |
missense |
unknown |
|
R5597:Or5h24
|
UTSW |
16 |
58,918,710 (GRCm39) |
missense |
unknown |
|
R6758:Or5h24
|
UTSW |
16 |
58,919,328 (GRCm39) |
missense |
probably damaging |
0.96 |
R6882:Or5h24
|
UTSW |
16 |
58,918,990 (GRCm39) |
missense |
unknown |
|
R8026:Or5h24
|
UTSW |
16 |
58,918,731 (GRCm39) |
missense |
unknown |
|
R8224:Or5h24
|
UTSW |
16 |
58,919,117 (GRCm39) |
missense |
unknown |
|
R8313:Or5h24
|
UTSW |
16 |
58,919,004 (GRCm39) |
missense |
unknown |
|
R8827:Or5h24
|
UTSW |
16 |
58,919,061 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATGACTTGCTTGTTTCTCAGG -3'
(R):5'- CGCTATGTAGCCATATGCAAACC -3'
Sequencing Primer
(F):5'- CTTGTTTCTCAGGCTGTAGATAATTG -3'
(R):5'- CTGTGACATCGTTCCATTGCTAAAG -3'
|
Posted On |
2015-06-20 |